Fatigability in Spinal Muscular Atrophy: validity and reproducibility of tests.

- ACRONYM

- hypothesis

1) The Motor Fatigability Test is a reproducible and valid outcome measure for fatigability of the skeletal muscles in patients with SMA
2) The Respiratory Fatigability Test is a reproducible and valid outcome measure for fatigability of the respiratory muscles in patients with SMA
3) Fatigability in SMA patients is associated with neuromuscular junction dysfunction

June 2014 – November 2015: selection of subjects and obtaining informed consent
July 2014 – December 2015: testing subjects
December 2014 - December 2015: Analyses
January 2015 - June 2016: final data analysis and writing of manuscripts.

The objective of this study is to develop reproducible and valid outcome measures for fatigability in patients with Spinal Muscular Atrophy. Recently, our research group demonstrated dysfunction of the neuromuscular junction in 50% of SMA-patients. The association between neuromuscular junction dysfunction and fatigability in SMA patients remains unclear. The psychometric properties of two newly developed fatigability tests will be investigated in SMA patients and healthy and patient control groups and the association between fatigability and neuromuscular function dysfunction in SMA patients will be studied
The development of appropriate outcome measures for fatigability will give more insight in fatigability and the role of the neuromuscular junction in SMA patients and will contribute to the design of pharmaceutical and physical interventions to decrease fatigability and improve physical functioning.